Alternative Names
Ataxia (Vitamin E Deficiency); ataxia with isolated vitamin E deficiency; AVED; familial isolated vitamin E deficiency; FIVE; Friedreich ataxia phenotype with selective vitamin E deficiency; Friedreich-like ataxia; Vitamin E Deficiency
Symptoms & Characteristics
Ataxia with vitamin E deficiency (AVED) is a disorder that impairs the body's ability to use vitamin E. Vitamin E is an antioxidant that protects cells in the body from the damaging effects of unstable molecules called free radicals.
Lack of vitamin E causes neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). A few people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss.
Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the age of 4 years and 18 years. The movement problems tend to worsen with age.
Treatment
Treatment for ataxia with vitamin E deficiency primarily involves lifelong high-dose oral vitamin E supplementation. Early diagnosis and routine surveillance may help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
Ataxia with vitamin E deficiency is a rare condition; however, its prevalence is unknown.
Genetics & Inheritance
Mutations in the TTPA gene cause ataxia with vitamin E deficiency.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Genetic Testing
Clinical genetic testing for ataxia with vitamin E deficiency may be available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
Support & More Information
More information can be found at: